Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77101217
rs77101217
CFTR ; CFTR-AS1
T 0.700 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs77101217
rs77101217
CFTR ; CFTR-AS1
T 0.700 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs77101217
rs77101217
CFTR ; CFTR-AS1
T 0.700 CausalMutation CLINVAR Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. 2236053

1990